Article
Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).
Pediatric blood & cancer - 1 Apr 2015
Bailey Shivani, Murray Matthew J, Witkowski Leora, Hook Elizabeth, Hasselblatt Martin, Crawford Robin, Foulkes William D, Tischkowitz Marc, Nicholson James C
Abstract excerpt
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare, aggressive tumor that primarily affects young women. SCCOHT has recently been identified as a monogenic disorder caused by germline and/or somatic SMARCA4 mutations. We describe a 15-year-old Caucasian female with a SCCOHT harboring a previously unreported somatic mutation in the SMARCA4 gene (c.1757delA; p.K586.fs) with loss of...
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